학술논문
Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder.
Document Type
Case Study
Author
Source
Subject
*METABOLIC disorder diagnosis
*ANTIFUNGAL agents
*AUTISM
*BRAIN
*CHILD development deviations
*CREATINE
*CREATININE
*DEVELOPMENTAL disabilities
*LANGUAGE disorders
*MAGNETIC resonance imaging
*METABOLIC disorders
*MUSCLE hypotonia
*NUCLEAR magnetic resonance spectroscopy
*TRANSFERASES
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Language
ISSN
0972-2327
Abstract
A case study is presented of a two year and five months old boy with evaluation of global developmental delay, predominantly involving socio-adaptive and language milestones. Brain magnetic resonance imaging at presentation showed symmetrical hyperintensity involving central pontine tegmental tracts and bilateral globus pallidi, and magnetic resonance spectroscopy revealed an absence of creatine peak. They were treated for guanidinoacetate methyltransferase.